A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505425



Internal ID282200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19173949..19174718hg38UCSC Ensembl
chr13:19748089..19748858hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685847
Samples
Known GenesTUBA3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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